Considerations: Skeletal limb abnormalities may result from metabolic diseases, malnutrition (inappropriate amounts of a vitamin, protein, calcium, or other nutrients), genetic diseases, chromosomal abnormalities, intrauterine exposure to drugs and medications, intrauterine infections, intrauterine positioning, intrauterine trauma, birth trauma, and malignancies.
The term is most often used to describe defects associated with genetic, chromosomal, and intrauterine events and is often present at birth. Limb abnormalities can develop after birth as in the case of rickets, renal rickets, and other diseases that can cause profound changes in the skeletal structure after birth.
Common Causes:
- genetic and chromosomal
- intrauterine exposure to drugs or medications
- thalidomide causes phocomelia (the upper part of one or more of the arms or legs is missing)
- aminopterin causes mesomelia (shortness of the forelimb)
- intrauterine conditions
Home Care: Consult your health care provider.
Call If:
- there is any concern about limb length or appearance.
What To Expect: An infant with limb abnormalities generally has other symptoms and signs that, when taken together, define a specific syndrome or condition or give a clue as to the cause of the abnormality. Diagnosis of that condition is based on a family history, medical history, and thorough physical evaluation.
Medical history questions documenting skeletal (limb) abnormality in detail may include:
- family history
- Have any family members had similar skeletal abnormalities?
- Is there any family history of a disorder associated with skeletal limb abnormality (see common causes in this document).
- history of the pregnancy
- Were there any troubles with the pregnancy?
- What drugs or medications were taken during the pregnancy?
- other
- What other symptoms or abnormalities are also present?
Laboratory studies such as chromosome studies, enzyme assays, X-rays, and metabolic studies may be ordered to confirm the presence of a suspected disorder.
After seeing your health care provider:
If a diagnosis was made by your health care provider as the cause of a limb abnormality, you may want to note that diagnosis in your personal medical record.
